FHIT - fragile histidine triad diadenosine triphosphatase Gene
Also Known as FRA3B; AP3Aase
Species: Homo sapiens
About FHIT
This gene has 8 transcripts (splice variants), 126 orthologues, 2 paralogues and is associated with 74 phenotypes. Ubiquitous expression in gall bladder (RPKM 2.2), lymph node (RPKM 1.6) and 25 other tissues.
Summary
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
FHIT Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001166243.3 | NP_001159715.1 | bis(5'-adenosyl)-triphosphatase isoform 1 |
| NM_001320899.2 | NP_001307828.1 | bis(5'-adenosyl)-triphosphatase isoform 1 |
| NM_001320900.2 | NP_001307829.1 | bis(5'-adenosyl)-triphosphatase isoform 1 |
| NM_001320901.2 | NP_001307830.1 | bis(5'-adenosyl)-triphosphatase isoform 2 |
| NM_001354589.2 | NP_001341518.1 | bis(5'-adenosyl)-triphosphatase isoform 3 |
| NM_001354590.2 | NP_001341519.1 | bis(5'-adenosyl)-triphosphatase isoform 3 |
| NM_002012.4 | NP_002003.1 | bis(5'-adenosyl)-triphosphatase isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables adenosine 5'-monophosphoramidase activity |
IDA
IDA: Inferred from direct assay
|
18694747 | GOA |
| enables adenylylsulfatase activity |
IDA
IDA: Inferred from direct assay
|
18694747 | GOA |
| enables adenylylsulfate-ammonia adenylyltransferase activity |
IDA
IDA: Inferred from direct assay
|
26181368 | GOA |
| enables bis(5'-adenosyl)-triphosphatase activity |
IDA
IDA: Inferred from direct assay
|
8794732 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
9261067 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18077326 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
15313915 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in diadenosine triphosphate catabolic process |
IDA
IDA: Inferred from direct assay
|
8794732 | GOA |
| involved in intrinsic apoptotic signaling pathway by p53 class mediator |
IMP
IMP: Inferred from mutant phenotype
|
15313915 | GOA |
| involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
15313915 | GOA |
| involved in purine nucleotide metabolic process |
IDA
IDA: Inferred from direct assay
|
9323207 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15007172 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
15313915 | GOA |
FHIT Protein Structure
HIT: HIT domain (11 - 103)
- 0
- 100
- 147 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bis(5'-adenosyl)-triphosphatase |
|
FHIT Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
FHIT | P49789 | CTNNB1 | Homo sapiens | P35222 | 18077326 | |
|
Intra
|
FHIT | P49789 | CTNNB1 | Homo sapiens | P35222 | 18077326 | |
|
Intra
|
FHIT | P49789 | CTNNB1 | Homo sapiens | P35222 | 18077326 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 18077326 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 27107012 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 31515488 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 24722188 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 27107012 | |
|
Intra
|
FHIT | P49789 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 16189514 | |
|
Intra
|
FHIT | P49789 | MTMR6 | Homo sapiens | Q9Y217 | 33961781 | |
|
Intra
|
FHIT | P49789 | RAB40B | Homo sapiens | Q12829 | 21988832 | |
|
Intra
|
FHIT | P49789 | MTMR6 | Homo sapiens | Q9Y217-2 | 28514442 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 32296183 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 25416956 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 9576908 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 9261067 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 32296183 | |
|
Intra
|
FHIT | P49789 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
FHIT | P49789 | FHIT | Homo sapiens | P49789 | 32296183 | |
|
Intra
|
FHIT | P49789 | DDIT4L | Homo sapiens | Q96D03 | 32296183 |
Recombinant FHIT Proteins
| Cat. No. | Nom du produit | Accession | Pureté |
|---|---|---|---|
| HY-P75187 | FHIT Protein, Human (His) | P49789 (M1-Q147) | ≥ 95%, as determined by reducing SDS-PAGE. |
FHIT Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P810873 | FHIT Antibody | WB, IHC-P, ICC/IF | Human |
| HY-P811178 | Phospho-FHIT (Tyr114) Antibody | WB, IHC-P, ICC/IF | Human, Mouse |
| HY-P82932 | FHIT Antibody (YA2677) | WB | Human, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Sporadic Breast Cancer |
|
|
| Megacolon |
|
|
| Cervical Intraepithelial Neoplasia |
|
|
| Bilateral Breast Cancer |
|
|
| Muir-Torre Syndrome |
|
|
| Hereditary Conventional Renal Cell Carcinoma |
|
|
| Autism |
|
|
| Suppressor Of Tumorigenicity 3 |
|
|
| Human Papillomavirus Infectious Disease |
|
|
| Lung Cancer |
|
|
| Lung Benign Neoplasm |
|
|
| Laryngeal Squamous Cell Carcinoma |
|
|
| Schizophrenia |
|
|
| Bronchiolo-Alveolar Adenocarcinoma |
|
|
| Kidney Cancer |
|
|
| Transitional Cell Carcinoma |
|
|
| Cervical Cancer |
|
|
| Hereditary Renal Cell Carcinoma |
|
|
| Bronchus Cancer |
|
|
| Pleomorphic Adenoma |
|
|
| Gastric Adenocarcinoma |
|
|
| Gastric Cancer |
|
|
| Endometrial Cancer |
|
|
| Squamous Cell Carcinoma |
|
|
| Breast Cancer |
|
|
| Colorectal Cancer |
|
|
| Gallbladder Cancer |
|
|
| Esophageal Cancer |
|
|
| Adenosquamous Carcinoma |
|
|
| Vallecula Cancer |
|
|
| Myelodysplastic Syndrome |
|
|
| Uterus Carcinoma In Situ |
|
|
| Merkel Cell Carcinoma |
|
|
| Cervix Uteri Carcinoma In Situ |
|
|
| Bladder Cancer |
|
|
| Megaesophagus |
|
|
| Ocular Cancer |
|
|
| Barrett Esophagus |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Cholangiocarcinoma |
|
|
| Cervical Squamous Cell Carcinoma |
|
|
| Chronic Fatigue Syndrome |
|
|
| Pancreatic Cancer |
|
|
| Breast Disease |
|
|
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
|
| Small Intestine Leiomyosarcoma |
|
|
| Interstitial Lung Disease 2 |
|
|
| Hepatocellular Carcinoma |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Prostate Cancer |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | FHIT | VGNC | VGNC:80046 |
| Canis familiaris | FHIT | VGNC | VGNC:40870 |
| Rattus norvegicus | FHIT | RGD | RGD:620448 |
| Macaca mulatta | FHIT | VGNC | VGNC:84181 |
| Mus musculus | FHIT | MGD | MGI:1277947 |
| Bos taurus | FHIT | VGNC | VGNC:28998 |
| Others | FHIT | NCBI |